Canonical Allele Identifier: CA2466663865

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379781_154379783delinsTTA , CM000685.2:g.154379781_154379783delinsTTA	GRCh38
NC_000023.10:g.153608141_153608143delinsTTA , CM000685.1:g.153608141_153608143delinsTTA	GRCh37
NC_000023.9:g.153261335_153261337delinsTTA	NCBI36
NG_008677.1:g.10346_10348delinsTTA , LRG_745:g.10346_10348delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.174_176delinsTTA	ENSP00000507245.1:p.Ser58=
ENST00000682478.1:n.150_152delinsTTA
ENST00000683576.1:n.150_152delinsTTA
ENST00000683627.1:c.174_176delinsTTA	ENSP00000507533.1:p.Ser58=
ENST00000684082.1:c.174_176delinsTTA	ENSP00000508266.1:p.Ser58=
ENST00000684633.1:n.146_148delinsTTA
ENST00000684678.1:c.170_172delinsTTA	ENSP00000507059.1:p.Leu57=
ENST00000369842.9:c.174_176delinsTTA MANE Select	ENSP00000358857.4:p.Ser58=
ENST00000369835.3:c.83-161_83-159delinsTTA	ENSP00000358850.3:n.83-161_83-159delinsTTA
ENST00000369842.8:c.174_176delinsTTA	ENSP00000358857.4:p.Ser58=
ENST00000428228.5:c.*79_*81delinsTTA	ENSP00000401081.1:n.*79_*81delinsTTA
ENST00000468294.5:n.134_136delinsTTA
ENST00000485261.1:n.164-161_164-159delinsTTA
ENST00000486738.5:n.318_320delinsTTA
ENST00000492448.1:n.157_159delinsTTA
ENST00000494443.5:n.231_233delinsTTA
NM_000117.2:c.174_176delinsTTA , LRG_745t1:c.174_176delinsTTA	NP_000108.1:p.Ser58=
XM_024452349.1:c.-35_-33delinsTTA	XP_024308117.1:n.-35_-33delinsTTA
NM_000117.3:c.174_176delinsTTA MANE Select	NP_000108.1:p.Ser58=